Canonical Allele Identifier: CA4341383

Gene: PEX1

Linked Data

• ClinVar Variation Id: 765079
• ClinVar RCV Id: RCV000943461
• dbSNP Id: rs774980172
• ExAC: 7:92140351 T / C
• gnomAD v2: 7-92140351-T-C
• gnomAD v3: 7-92511037-T-C
• gnomAD v4: 7-92511037-T-C
• MyVariant Identifiers: chr7:g.92140351T>C (hg19) ; chr7:g.92511037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511037T>C , CM000669.2:g.92511037T>C	GRCh38
NC_000007.13:g.92140351T>C , CM000669.1:g.92140351T>C	GRCh37
NC_000007.12:g.91978287T>C	NCBI36
NG_008341.1:g.22495A>G
NG_008341.2:g.22495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1494A>G MANE Select	ENSP00000248633.4:p.Glu498=
ENST00000248633.8:c.1494A>G	ENSP00000248633.4:p.Glu498=
ENST00000422866.1:c.395A>G
ENST00000428214.5:c.1494A>G	ENSP00000394413.1:p.Glu498=
ENST00000438045.5:c.528A>G	ENSP00000410438.1:p.Glu176=
ENST00000476923.1:n.255A>G
ENST00000484913.5:n.1533A>G
NM_000466.2:c.1494A>G	NP_000457.1:p.Glu498=
NM_001282677.1:c.1494A>G	NP_001269606.1:p.Glu498=
NM_001282678.1:c.870A>G	NP_001269607.1:p.Glu290=
XM_005250433.3:c.-173A>G	XP_005250490.1:n.-173A>G
XR_242246.3:n.1590A>G
XM_017012319.2:c.-173A>G	XP_016867808.1:n.-173A>G
XR_001744808.2:n.604A>G
XR_242246.5:n.1541A>G
NM_000466.3:c.1494A>G MANE Select	NP_000457.1:p.Glu498=
NM_001282677.2:c.1494A>G	NP_001269606.1:p.Glu498=
NM_001282678.2:c.870A>G	NP_001269607.1:p.Glu290=